LOCUS       NM_000344               1482 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens survival of motor neuron 1, telomeric (SMN1),
            transcript variant d, mRNA.
ACCESSION   NM_000344 XM_001126655
VERSION     NM_000344.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1482)
  AUTHORS   Nurputra,D.K., Sofian,J., Iskandar,K., Triono,A., Herini,E.S.,
            Sunartini and Ulhaq,Z.S.
  TITLE     Multidisciplinary approach on divergent outcomes in spinal muscular
            atrophies: comparing DYNC1H1 and SMN1 gene mutations
  JOURNAL   Neurol Sci 45 (9), 4583-4588 (2024)
   PUBMED   38806879
  REMARK    GeneRIF: Multidisciplinary approach on divergent outcomes in spinal
            muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.
REFERENCE   2  (bases 1 to 1482)
  AUTHORS   Polverini,E., Squeri,P. and Gherardi,V.
  TITLE     Effect of E134K pathogenic mutation of SMN protein on SMN-SmD1
            interaction, with implication in spinal muscular atrophy: A
            molecular dynamics study
  JOURNAL   Int J Biol Macromol 275 (Pt 2), 133663 (2024)
   PUBMED   38969036
  REMARK    GeneRIF: Effect of E134K pathogenic mutation of SMN protein on
            SMN-SmD1 interaction, with implication in spinal muscular atrophy:
            A molecular dynamics study.
REFERENCE   3  (bases 1 to 1482)
  AUTHORS   Li,L., Menezes,M.P., Smith,M., Forbes,R., Zuchner,S., Burgess,A.,
            Woodcock,I.R., Delatycki,M.B. and Yiu,E.M.
  TITLE     Rare homozygous disease-associated sequence variants in children
            with spinal muscular atrophy: a phenotypic description and review
            of the literature
  JOURNAL   Neuromuscul Disord 37, 29-35 (2024)
   PUBMED   38520993
  REMARK    GeneRIF: Rare homozygous disease-associated sequence variants in
            children with spinal muscular atrophy: a phenotypic description and
            review of the literature.
            Review article
REFERENCE   4  (bases 1 to 1482)
  AUTHORS   Valsecchi,V., Errico,F., Bassareo,V., Marino,C., Nuzzo,T.,
            Brancaccio,P., Laudati,G., Casamassa,A., Grimaldi,M., D'Amico,A.,
            Carta,M., Bertini,E., Pignataro,G., D'Ursi,A.M. and Usiello,A.
  TITLE     SMN deficiency perturbs monoamine neurotransmitter metabolism in
            spinal muscular atrophy
  JOURNAL   Commun Biol 6 (1), 1155 (2023)
   PUBMED   37957344
  REMARK    GeneRIF: SMN deficiency perturbs monoamine neurotransmitter
            metabolism in spinal muscular atrophy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1482)
  AUTHORS   Gu,Y., Li,L., Chen,H., Xu,L., Fang,Y., Xu,X. and Long,Y.
  TITLE     [Analysis of a Chinese pedigree affected with Spinal muscular
            atrophy due to compound heterozygous variants of SMN gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (11), 1387-1391 (2023)
   PUBMED   37906147
  REMARK    GeneRIF: [Analysis of a Chinese pedigree affected with Spinal
            muscular atrophy due to compound heterozygous variants of SMN
            gene].
REFERENCE   6  (bases 1 to 1482)
  AUTHORS   Bussaglia,E., Clermont,O., Tizzano,E., Lefebvre,S., Burglen,L.,
            Cruaud,C., Urtizberea,J.A., Colomer,J., Munnich,A., Baiget,M. et
            al.
  TITLE     A frame-shift deletion in the survival motor neuron gene in Spanish
            spinal muscular atrophy patients
  JOURNAL   Nat Genet 11 (3), 335-337 (1995)
   PUBMED   7581461
REFERENCE   7  (bases 1 to 1482)
  AUTHORS   Gennarelli,M., Lucarelli,M., Capon,F., Pizzuti,A., Merlini,L.,
            Angelini,C., Novelli,G. and Dallapiccola,B.
  TITLE     Survival motor neuron gene transcript analysis in muscles from
            spinal muscular atrophy patients
  JOURNAL   Biochem Biophys Res Commun 213 (1), 342-348 (1995)
   PUBMED   7639755
REFERENCE   8  (bases 1 to 1482)
  AUTHORS   Lefebvre,S., Burglen,L., Reboullet,S., Clermont,O., Burlet,P.,
            Viollet,L., Benichou,B., Cruaud,C., Millasseau,P., Zeviani,M. et
            al.
  TITLE     Identification and characterization of a spinal muscular
            atrophy-determining gene
  JOURNAL   Cell 80 (1), 155-165 (1995)
   PUBMED   7813012
REFERENCE   9  (bases 1 to 1482)
  AUTHORS   van der Steege,G., Draaijers,T.G., Grootscholten,P.M., Osinga,J.,
            Anzevino,R., Velona,I., Den Dunnen,J.T., Scheffer,H., Brahe,C., van
            Ommen,G.J. et al.
  TITLE     A provisional transcript map of the spinal muscular atrophy (SMA)
            critical region
  JOURNAL   Eur J Hum Genet 3 (2), 87-95 (1995)
   PUBMED   7552146
REFERENCE   10 (bases 1 to 1482)
  AUTHORS   Prior,T.W., Leach,M.E. and Finanger,E.L.
  TITLE     Spinal Muscular Atrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301526
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139834.2, BC062723.1 and
            AC044797.5.
            
            On Feb 5, 2020 this sequence version replaced NM_000344.3.
            
            Summary: This gene is part of a 500 kb inverted duplication on
            chromosome 5q13. This duplicated region contains at least four
            genes and repetitive elements which make it prone to rearrangements
            and deletions. The repetitiveness and complexity of the sequence
            have also caused difficulty in determining the organization of this
            genomic region. The telomeric and centromeric copies of this gene
            are nearly identical and encode the same protein. However,
            mutations in this gene, the telomeric copy, are associated with
            spinal muscular atrophy; mutations in the centromeric copy do not
            lead to disease. The centromeric copy may be a modifier of disease
            caused by mutation in the telomeric copy. The critical sequence
            difference between the two genes is a single nucleotide in exon 7,
            which is thought to be an exon splice enhancer. Note that the nine
            exons of both the telomeric and centromeric copies are designated
            historically as exon 1, 2a, 2b, and 3-8. It is thought that gene
            conversion events may involve the two genes, leading to varying
            copy numbers of each gene. The protein encoded by this gene
            localizes to both the cytoplasm and the nucleus. Within the
            nucleus, the protein localizes to subnuclear bodies called gems
            which are found near coiled bodies containing high concentrations
            of small ribonucleoproteins (snRNPs). This protein forms
            heteromeric complexes with proteins such as SIP1 and GEMIN4, and
            also interacts with several proteins known to be involved in the
            biogenesis of snRNPs, such as hnRNP U protein and the small
            nucleolar RNA binding protein. Multiple transcript variants
            encoding distinct isoforms have been described. [provided by
            RefSeq, Jul 2014].
            
            Transcript Variant: This variant (d) represents the longest
            transcript and encodes the longest isoform (d). This variant is
            thought to be the predominant transcript produced by this copy of
            the gene.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC062723.1, U18423.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380707.9/ ENSP00000370083.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AC139834.2         174697-174698
            3-1236              BC062723.1         5-1238
            1237-1479           BC062723.1         1240-1482
            1480-1482           AC044797.5         49999-50001
FEATURES             Location/Qualifiers
     source          1..1482
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1482
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="survival of motor neuron 1, telomeric"
                     /db_xref="GeneID:6606"
                     /db_xref="HGNC:HGNC:11117"
                     /db_xref="MIM:600354"
     exon            1..98
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..902
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /note="isoform d is encoded by transcript variant d;
                     gemin-1; component of gems 1; survival motor neuron 1
                     protein; tudor domain containing 16A"
                     /codon_start=1
                     /product="survival motor neuron protein isoform d"
                     /protein_id="NP_000335.1"
                     /db_xref="CCDS:CCDS34181.1"
                     /db_xref="GeneID:6606"
                     /db_xref="HGNC:HGNC:11117"
                     /db_xref="MIM:600354"
                     /translation="MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYD
                     KAVASFKHALKNGDICETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIW
                     SEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENE
                     NESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPP
                     PPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGY
                     YMGFRQNQKEGRCSHSLN"
     exon            99..170
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
     exon            171..290
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
     exon            291..491
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
     exon            492..644
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
     exon            645..740
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
     exon            741..851
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
     exon            852..905
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1482
                     /gene="SMN1"
                     /gene_synonym="BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3;
                     SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcacccgcgg gtttgctatg gcgatgagca gcggcggcag tggtggcggc gtcccggagc
       61 aggaggattc cgtgctgttc cggcgcggca caggccagag cgatgattct gacatttggg
      121 atgatacagc actgataaaa gcatatgata aagctgtggc ttcatttaag catgctctaa
      181 agaatggtga catttgtgaa acttcgggta aaccaaaaac cacacctaaa agaaaacctg
      241 ctaagaagaa taaaagccaa aagaagaata ctgcagcttc cttacaacag tggaaagttg
      301 gggacaaatg ttctgccatt tggtcagaag acggttgcat ttacccagct accattgctt
      361 caattgattt taagagagaa acctgtgttg tggtttacac tggatatgga aatagagagg
      421 agcaaaatct gtccgatcta ctttccccaa tctgtgaagt agctaataat atagaacaaa
      481 atgctcaaga gaatgaaaat gaaagccaag tttcaacaga tgaaagtgag aactccaggt
      541 ctcctggaaa taaatcagat aacatcaagc ccaaatctgc tccatggaac tcttttctcc
      601 ctccaccacc ccccatgcca gggccaagac tgggaccagg aaagccaggt ctaaaattca
      661 atggcccacc accgccaccg ccaccaccac caccccactt actatcatgc tggctgcctc
      721 catttccttc tggaccacca ataattcccc caccacctcc catatgtcca gattctcttg
      781 atgatgctga tgctttggga agtatgttaa tttcatggta catgagtggc tatcatactg
      841 gctattatat gggtttcaga caaaatcaaa aagaaggaag gtgctcacat tccttaaatt
      901 aaggagaaat gctggcatag agcagcacta aatgacacca ctaaagaaac gatcagacag
      961 atctggaatg tgaagcgtta tagaagataa ctggcctcat ttcttcaaaa tatcaagtgt
     1021 tgggaaagaa aaaaggaagt ggaatgggta actcttcttg attaaaagtt atgtaataac
     1081 caaatgcaat gtgaaatatt ttactggact ctattttgaa aaaccatctg taaaagactg
     1141 gggtgggggt gggaggccag cacggtggtg aggcagttga gaaaatttga atgtggatta
     1201 gattttgaat gatattggat aattattggt aattttatga gctgtgagaa gggtgttgta
     1261 gtttataaaa gactgtctta atttgcatac ttaagcattt aggaatgaag tgttagagtg
     1321 tcttaaaatg tttcaaatgg tttaacaaaa tgtatgtgag gcgtatgtgg caaaatgtta
     1381 cagaatctaa ctggtggaca tggctgttca ttgtactgtt tttttctatc ttctatatgt
     1441 ttaaaagtat ataataaaaa tatttaattt ttttttaaat ta
//
